Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Adeel Ahmad; Shakeela Daud; Naseebullah Kakar; Gudrun Nürnberg; Peter Nürnberg; Masroor Ellahi Babar; Michaela Thoenes; Christian Kubisch; Jamil Ahmad; Hanno Jörn Bolz

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Standard

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. / Ahmad, Adeel; Daud, Shakeela; Kakar, Naseebullah; Nürnberg, Gudrun; Nürnberg, Peter; Babar, Masroor Ellahi; Thoenes, Michaela; Kubisch, Christian; Ahmad, Jamil; Bolz, Hanno Jörn.

In: MOL VIS, Vol. 17, 2011, p. 1940-1945.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Ahmad, A, Daud, S, Kakar, N, Nürnberg, G, Nürnberg, P, Babar, ME, Thoenes, M, Kubisch, C, Ahmad, J & Bolz, HJ 2011, 'Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.', MOL VIS, vol. 17, pp. 1940-1945. <http://www.ncbi.nlm.nih.gov/pubmed/21850168?dopt=Citation>

APA

Ahmad, A., Daud, S., Kakar, N., Nürnberg, G., Nürnberg, P., Babar, M. E., Thoenes, M., Kubisch, C., Ahmad, J., & Bolz, H. J. (2011). Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. MOL VIS, 17, 1940-1945. http://www.ncbi.nlm.nih.gov/pubmed/21850168?dopt=Citation

Vancouver

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME et al. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. MOL VIS. 2011;17:1940-1945.

Bibtex

@article{e9844cbb325a4140be9ec60f507a3a41,

title = "Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.",

abstract = "To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family.",

keywords = "Humans, Male, Female, Adolescent, Child, Genotype, Genetic Predisposition to Disease, DNA Mutational Analysis, Mutation, Molecular Sequence Data, Base Sequence, Homozygote, Pedigree, Polymorphism, Single Nucleotide, Consanguinity, Haplotypes, Genetic Linkage, Exons, Asian Continental Ancestry Group/genetics, Pakistan, Cataract/complications/*genetics/physiopathology, Eye/*metabolism/physiopathology, *Eye Proteins/genetics, Leber Congenital Amaurosis/complications/*genetics/physiopathology, *Microtubule-Associated Proteins/genetics, Nystagmus, Congenital/complications/*genetics/physiopathology, Humans, Male, Female, Adolescent, Child, Genotype, Genetic Predisposition to Disease, DNA Mutational Analysis, Mutation, Molecular Sequence Data, Base Sequence, Homozygote, Pedigree, Polymorphism, Single Nucleotide, Consanguinity, Haplotypes, Genetic Linkage, Exons, Asian Continental Ancestry Group/genetics, Pakistan, Cataract/complications/*genetics/physiopathology, Eye/*metabolism/physiopathology, *Eye Proteins/genetics, Leber Congenital Amaurosis/complications/*genetics/physiopathology, *Microtubule-Associated Proteins/genetics, Nystagmus, Congenital/complications/*genetics/physiopathology",

author = "Adeel Ahmad and Shakeela Daud and Naseebullah Kakar and Gudrun N{\"u}rnberg and Peter N{\"u}rnberg and Babar, {Masroor Ellahi} and Michaela Thoenes and Christian Kubisch and Jamil Ahmad and Bolz, {Hanno J{\"o}rn}",

year = "2011",

language = "English",

volume = "17",

pages = "1940--1945",

journal = "MOL VIS",

issn = "1090-0535",

publisher = "Molecular Vision",

}

RIS

TY - JOUR

T1 - Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

AU - Ahmad, Adeel

AU - Daud, Shakeela

AU - Kakar, Naseebullah

AU - Nürnberg, Gudrun

AU - Nürnberg, Peter

AU - Babar, Masroor Ellahi

AU - Thoenes, Michaela

AU - Kubisch, Christian

AU - Ahmad, Jamil

AU - Bolz, Hanno Jörn

PY - 2011

Y1 - 2011

N2 - To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family.

AB - To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family.

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Genotype

KW - Genetic Predisposition to Disease

KW - DNA Mutational Analysis

KW - Mutation

KW - Molecular Sequence Data

KW - Base Sequence

KW - Homozygote

KW - Pedigree

KW - Polymorphism, Single Nucleotide

KW - Consanguinity

KW - Haplotypes

KW - Genetic Linkage

KW - Exons

KW - Asian Continental Ancestry Group/genetics

KW - Pakistan

KW - Cataract/complications/genetics/physiopathology

KW - Eye/metabolism/physiopathology

KW - Eye Proteins/genetics

KW - Leber Congenital Amaurosis/complications/genetics/physiopathology

KW - Microtubule-Associated Proteins/genetics

KW - Nystagmus, Congenital/complications/genetics/physiopathology